Childhood solid tumours
Gene: DICER1
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DICER1 syndrome, Familial Multinodular Goiter
Comment on list classification: Associated with pleurobulmonaryblastoma (including bilateral) and other childhood tumoursCreated: 7 Mar 2016, 11:43 p.m.
Publications for gene: DICER1 were set to 21205968
Phenotypes for gene: DICER1 were changed from Familial Multinodular Goiter; DICER1 syndrome; 601200 to Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800; Pleuropulmonary blastoma, OMIM:601200; Pleuropulmonary blastoma, MONDO:0011014; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; Embryonal rhabdomyosarcoma (disease), MONDO:0009993; DICER1 syndrome; GLOW syndrome; Global developmental delay, lung cysts, overgrowth, and wilms tumor, MONDO:0032647
Source NHS GMS was added to DICER1. Mode of inheritance for gene DICER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes DICER1 syndrome; Familial Multinodular Goiter for gene: DICER1 Publications for gene DICER1 were changed from 19556464 to 21205968
Source Expert List was added to DICER1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
DICER1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
DICER1 was created by Reviewer_03